Claudia Castiglioni1, Daniela Verrigni2, Cecilia Okuma3, Alejandra Diaz4, Karin Alvarez5, Teresa Rizza2, Rosalba Carrozzo2, Enrico Bertini2, Marcelo Miranda6. 1. Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile. Electronic address: ccastiglioni@clc.cl. 2. Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy. 3. Dept. of Radiology, Clínica las Condes, Santiago, Chile. 4. National Institute of Rehabilitation, INRPAC, Santiago, Chile. 5. Laboratory of Molecular Genetics and Oncology, Clínica las Condes, Santiago, Chile. 6. Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.
Abstract
BACKGROUND: Pyruvate dehydrogenase (PDH) deficiency is a disorder of energy metabolism with variable clinical presentations, ranging from severe infantile lactic acidosis to milder chronic neurological disorders. The spectrum of clinical manifestations is continuously expanding. METHODS AND RESULTS: We report on a 19-year-old intelligent female with PDH deficiency caused by a Leu216Ser mutation in PDHA1. She presented with recurrent hemidystonic attacks, triggered by prolonged walking or running, as the unique clinical manifestation that manifested since childhood. Laboratory workup and neuroimages were initially normal but bilateral globus pallidum involvement appeared later on brain MRI. Dystonia completely remitted after high doses of thiamine, remaining free of symptoms after 3 years of follow up. We reviewed the literature for similar observations. CONCLUSIONS: Dystonia precipitated by exercise may be the only symptom of a PDH deficiency, and the hallmark of the disease as high serum lactate or bilateral striatal necrosis at neuroimaging may be absent. A high index of suspicion and follow up is necessary for diagnosis. The clinical presentation of this patient meets the criteria for a Paroxysmal Exercise induced Dystonia, leading us to add this entity as another potential etiology for this type of paroxysmal dyskinesia, which is besides a treatable condition that responds to thiamine supplementation.
BACKGROUND:Pyruvate dehydrogenase (PDH) deficiency is a disorder of energy metabolism with variable clinical presentations, ranging from severe infantile lactic acidosis to milder chronic neurological disorders. The spectrum of clinical manifestations is continuously expanding. METHODS AND RESULTS: We report on a 19-year-old intelligent female with PDH deficiency caused by a Leu216Ser mutation in PDHA1. She presented with recurrent hemidystonic attacks, triggered by prolonged walking or running, as the unique clinical manifestation that manifested since childhood. Laboratory workup and neuroimages were initially normal but bilateral globus pallidum involvement appeared later on brain MRI. Dystonia completely remitted after high doses of thiamine, remaining free of symptoms after 3 years of follow up. We reviewed the literature for similar observations. CONCLUSIONS:Dystonia precipitated by exercise may be the only symptom of a PDH deficiency, and the hallmark of the disease as high serum lactate or bilateral striatal necrosis at neuroimaging may be absent. A high index of suspicion and follow up is necessary for diagnosis. The clinical presentation of this patient meets the criteria for a Paroxysmal Exercise induced Dystonia, leading us to add this entity as another potential etiology for this type of paroxysmal dyskinesia, which is besides a treatable condition that responds to thiamine supplementation.
Authors: Jennifer Friedman; Annette Feigenbaum; Nathaniel Chuang; Jennifer Silhavy; Joseph G Gleeson Journal: Neurology Date: 2017-11-01 Impact factor: 9.910
Authors: Anthony L Traboulsee; A Dessa Sadovnick; Mary Encarnacion; Cecily Q Bernales; Irene M Yee; Maria G Criscuoli; Carles Vilariño-Güell Journal: Hum Genet Date: 2017-03-23 Impact factor: 4.132
Authors: H A Jinnah; Alberto Albanese; Kailash P Bhatia; Francisco Cardoso; Gustavo Da Prat; Tom J de Koning; Alberto J Espay; Victor Fung; Pedro J Garcia-Ruiz; Oscar Gershanik; Joseph Jankovic; Ryuji Kaji; Katya Kotschet; Connie Marras; Janis M Miyasaki; Francesca Morgante; Alexander Munchau; Pramod Kumar Pal; Maria C Rodriguez Oroz; Mayela Rodríguez-Violante; Ludger Schöls; Maria Stamelou; Marina Tijssen; Claudia Uribe Roca; Andres de la Cerda; Emilia M Gatto Journal: Mov Disord Date: 2017-09-01 Impact factor: 10.338